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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Neuroacanthocytosis
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Neuroacanthocytosis
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Dyskinesias > Chorea > Neuroacanthocytosis
Nervous System Diseases > Neurologic Manifestations > Dyskinesias > Chorea > Neuroacanthocytosis
... > Nervous System Diseases > Central Nervous System Diseases > Movement Disorders > Dyskinesias > Chorea > Neuroacanthocytosis

Preferred term

Neuroacanthocytosis  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Acanthocytoses, Chorea
  • Acanthocytosis, Chorea
  • Acanthocytosis with Neurologic Disorder
  • Chorea Acanthocytoses
  • Chorea-Acanthocytoses
  • Chorea Acanthocytosis
  • Chorea-Acanthocytosis
  • Chorea Acanthocytosis Syndrome
  • Chorea Acanthocytosis Syndromes
  • Choreoacanthocytoses
  • Choreoacanthocytosis
  • Levine Critchley Syndrome
  • Levine-Critchley Syndrome

Scope note

  • An inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYSKINESIAS; CHOREA; and thorny-looking red cells (ACANTHOCYTES). This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21.

History note

  • 2008 (2000)

In other languages

URI

http://www.yso.fi/onto/mesh/D054546

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